| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.763 | 0.320 | 7 | 6005918 | missense variant | C/A;T | snv | 1.6E-04; 8.1E-06 |
|
0.700 | 0 | |||||||||||
|
0.662 | 0.440 | 12 | 112450368 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.851 | 0.320 | 7 | 5997388 | stop gained | AGGGGG/CTTCACAAC;CTTCACACACA;NNNNNNNNNNN | delins |
|
0.700 | 0 | ||||||||||||
|
0.667 | 0.360 | 22 | 28695869 | frameshift variant | G/- | del | 2.0E-03 | 1.8E-03 |
|
0.700 | 0 | ||||||||||
|
0.807 | 0.280 | 7 | 5986933 | frameshift variant | -/T | delins | 1.6E-05 | 4.2E-05 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.120 | 10 | 87933245 | missense variant | C/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 6 | 14636732 | intergenic variant | T/C | snv | 0.74 |
|
0.810 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
11 | 58292720 | non coding transcript exon variant | C/T | snv | 0.28 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.882 | 0.280 | 6 | 32774091 | intergenic variant | T/C | snv | 0.26 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
6 | 32700323 | TF binding site variant | G/A | snv | 0.27 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
6 | 32614112 | intergenic variant | C/T | snv | 0.10 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 0.120 | 3 | 187931631 | downstream gene variant | T/C | snv | 0.23 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.790 | 0.440 | 6 | 32461866 | intron variant | T/C | snv | 0.29 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
11 | 58580292 | intron variant | A/G | snv | 0.15 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.925 | 0.160 | 7 | 148811636 | missense variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
8 | 131467654 | intergenic variant | C/T | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.882 | 0.120 | 2 | 201141373 | splice acceptor variant | G/A | snv | 0.18 | 0.26 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 11 | 111352386 | 3 prime UTR variant | A/G | snv | 0.39 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | 1 | 206778859 | intron variant | C/A;G | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.807 | 0.160 | 2 | 29209816 | missense variant | C/G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.120 | 5 | 157494947 | intron variant | A/G | snv | 0.10 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.701 | 0.360 | 12 | 57751648 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.653 | 0.600 | 4 | 1806163 | missense variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 |